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Related Concept Videos

Mutations01:39

Mutations

Overview
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

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Related Experiment Video

Updated: Jun 19, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

Ivy Jennes1, Elena Pedrini, Monia Zuntini

  • 1Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium.

Human Mutation
|October 8, 2009
PubMed
Summary

Multiple osteochondromas (MO) is a genetic bone disorder caused by mutations in EXT1 or EXT2 genes. This review covers MO

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Last Updated: Jun 19, 2026

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09:37

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09:43

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering

Published on: November 22, 2019

Area of Science:

  • Genetics and Molecular Biology
  • Skeletal Biology and Disease

Background:

  • Multiple osteochondromas (MO) is an autosomal dominant skeletal disorder.
  • MO is characterized by multiple cartilage-capped bone tumors.
  • Genetic heterogeneity is linked to mutations in tumor suppressor genes Exostosin-1 (EXT1) or Exostosin-2 (EXT2).

Purpose of the Study:

  • To review the clinical aspects and molecular genetics of EXT1 and EXT2 in MO.
  • To provide an overview of reported genetic variants in MO patients.

Main Methods:

  • Literature review of clinical and molecular genetic studies on MO.
  • Compilation and analysis of genetic variants from the Multiple Osteochondromas Mutation Database (LOVD).
  • Focus on mutations within the EXT1 and EXT2 genes.

Main Results:

  • Mutations in EXT1 or EXT2 are detected in 70-95% of individuals with MO.
  • EXT1 mutations account for approximately 65% of cases, while EXT2 mutations account for 35%.
  • Inactivating mutations (nonsense, frameshift, splice-site) comprise 75-80% of MO-causing mutations.

Conclusions:

  • Genetic mutations in EXT1 and EXT2 are the primary cause of Multiple Osteochondromas.
  • Understanding these mutations is crucial for diagnosing and potentially treating MO.
  • The reviewed variants provide a comprehensive resource for MO research.